Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.247424684T>A | CA345556451 | NLRP3 | c.1235T>A (p.Val412Asp) c.1100T>A (p.Val367Asp) c.1241T>A (p.Val414Asp) n.1416T>A | gnomAD v4 |
1 | g.247424684T>C | CA345556452 | NLRP3 | c.1235T>C (p.Val412Ala) c.1100T>C (p.Val367Ala) c.1241T>C (p.Val414Ala) n.1416T>C | |
1 | g.247424684T>G | CA345556453 | NLRP3 | c.1235T>G (p.Val412Gly) c.1100T>G (p.Val367Gly) c.1241T>G (p.Val414Gly) n.1416T>G | |
1 | g.247424685C>A | CA424582701 | NLRP3 | c.1236C>A (p.Val412=) c.1101C>A (p.Val367=) c.1242C>A (p.Val414=) n.1417C>A | |
1 | g.247424685C>G | CA424582702 | NLRP3 | c.1236C>G (p.Val412=) c.1101C>G (p.Val367=) c.1242C>G (p.Val414=) n.1417C>G | |
1 | g.247424685C>T | CA424582703 | NLRP3 | c.1236C>T (p.Val412=) c.1101C>T (p.Val367=) c.1242C>T (p.Val414=) n.1417C>T | |
1 | g.247424686T>A | CA345556455 | NLRP3 | c.1237T>A (p.Cys413Ser) c.1102T>A (p.Cys368Ser) c.1243T>A (p.Cys415Ser) n.1418T>A | |
1 | g.247424686T>C | CA345556456 | NLRP3 | c.1237T>C (p.Cys413Arg) c.1102T>C (p.Cys368Arg) c.1243T>C (p.Cys415Arg) n.1418T>C | |
1 | g.247424686T>G | CA345556454 | NLRP3 | c.1237T>G (p.Cys413Gly) c.1102T>G (p.Cys368Gly) c.1243T>G (p.Cys415Gly) n.1418T>G | |
1 | g.247424687G>A | CA345556457 | NLRP3 | c.1238G>A (p.Cys413Tyr) c.1103G>A (p.Cys368Tyr) c.1244G>A (p.Cys415Tyr) n.1419G>A | gnomAD v4 |
1 | g.247424687G>C | CA345556458 | NLRP3 | c.1238G>C (p.Cys413Ser) c.1103G>C (p.Cys368Ser) c.1244G>C (p.Cys415Ser) n.1419G>C | |
1 | g.247424687G>T | CA345556459 | NLRP3 | c.1238G>T (p.Cys413Phe) c.1103G>T (p.Cys368Phe) c.1244G>T (p.Cys415Phe) n.1419G>T | |
1 | g.247424688C>A | CA345556460 | NLRP3 | c.1239C>A (p.Cys413Ter) c.1104C>A (p.Cys368Ter) c.1245C>A (p.Cys415Ter) n.1420C>A | |
1 | g.247424688C>G | CA345556461 | NLRP3 | c.1239C>G (p.Cys413Trp) c.1104C>G (p.Cys368Trp) c.1245C>G (p.Cys415Trp) n.1420C>G | |
1 | g.247424688C>T | CA424582704 | NLRP3 | c.1239C>T (p.Cys413=) c.1104C>T (p.Cys368=) c.1245C>T (p.Cys415=) n.1420C>T | |
1 | g.247424689T>A | CA345556462 | NLRP3 | c.1240T>A (p.Trp414Arg) c.1105T>A (p.Trp369Arg) c.1246T>A (p.Trp416Arg) n.1421T>A | |
1 | g.247424689T>C | CA345556463 | NLRP3 | c.1240T>C (p.Trp414Arg) c.1105T>C (p.Trp369Arg) c.1246T>C (p.Trp416Arg) n.1421T>C | |
1 | g.247424689T>G | CA345556464 | NLRP3 | c.1240T>G (p.Trp414Gly) c.1105T>G (p.Trp369Gly) c.1246T>G (p.Trp416Gly) n.1421T>G | |
1 | g.247424690G>A | CA345556465 | NLRP3 | c.1241G>A (p.Trp414Ter) c.1106G>A (p.Trp369Ter) c.1247G>A (p.Trp416Ter) n.1422G>A | |
1 | g.247424690G>C | CA345556466 | NLRP3 | c.1241G>C (p.Trp414Ser) c.1106G>C (p.Trp369Ser) c.1247G>C (p.Trp416Ser) n.1422G>C | COSMIC |
1 | g.247424690G= | CA1142421402 | NLRP3 | c.1241G= (p.Trp414=) c.1106G= (p.Trp369=) c.1247G= (p.Trp416=) n.1422G= | |
1 | g.247424690G>T | CA281157 | NLRP3 | c.1241G>T (p.Trp414Leu) c.1106G>T (p.Trp369Leu) c.1247G>T (p.Trp416Leu) n.1422G>T | ClinVar dbSNP |
1 | g.247424691G>A | CA345556468 | NLRP3 | c.1242G>A (p.Trp414Ter) c.1107G>A (p.Trp369Ter) c.1248G>A (p.Trp416Ter) n.1423G>A | gnomAD v4 COSMIC |
1 | g.247424691G>C | CA345556469 | NLRP3 | c.1242G>C (p.Trp414Cys) c.1107G>C (p.Trp369Cys) c.1248G>C (p.Trp416Cys) n.1423G>C | |
1 | g.247424691G>T | CA345556467 | NLRP3 | c.1242G>T (p.Trp414Cys) c.1107G>T (p.Trp369Cys) c.1248G>T (p.Trp416Cys) n.1423G>T | |
1 | g.247424692A>C | CA345556470 | NLRP3 | c.1243A>C (p.Ile415Leu) c.1108A>C (p.Ile370Leu) c.1249A>C (p.Ile417Leu) n.1424A>C | |
1 | g.247424692A>G | CA345556471 | NLRP3 | c.1243A>G (p.Ile415Val) c.1108A>G (p.Ile370Val) c.1249A>G (p.Ile417Val) n.1424A>G | |
1 | g.247424692A>T | CA345556472 | NLRP3 | c.1243A>T (p.Ile415Phe) c.1108A>T (p.Ile370Phe) c.1249A>T (p.Ile417Phe) n.1424A>T | gnomAD v4 |
1 | g.247424693T>A | CA345556473 | NLRP3 | c.1244T>A (p.Ile415Asn) c.1109T>A (p.Ile370Asn) c.1250T>A (p.Ile417Asn) n.1425T>A | |
1 | g.247424693T>C | CA345556474 | NLRP3 | c.1244T>C (p.Ile415Thr) c.1109T>C (p.Ile370Thr) c.1250T>C (p.Ile417Thr) n.1425T>C | |
1 | g.247424693T>G | CA345556475 | NLRP3 | c.1244T>G (p.Ile415Ser) c.1109T>G (p.Ile370Ser) c.1250T>G (p.Ile417Ser) n.1425T>G | |
1 | g.247424694C>A | CA424582705 | NLRP3 | c.1245C>A (p.Ile415=) c.1110C>A (p.Ile370=) c.1251C>A (p.Ile417=) n.1426C>A | |
1 | g.247424694C= | CA1141706511 | NLRP3 | c.1245C= (p.Ile415=) c.1110C= (p.Ile370=) c.1251C= (p.Ile417=) n.1426C= | |
1 | g.247424694C>G | CA345556476 | NLRP3 | c.1245C>G (p.Ile415Met) c.1110C>G (p.Ile370Met) c.1251C>G (p.Ile417Met) n.1426C>G | |
1 | g.247424694C>T | CA1495001 | NLRP3 | c.1245C>T (p.Ile415=) c.1110C>T (p.Ile370=) c.1251C>T (p.Ile417=) n.1426C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.247424695G>A | CA1495003 | NLRP3 | c.1246G>A (p.Val416Met) c.1111G>A (p.Val371Met) c.1252G>A (p.Val418Met) n.1427G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.247424695G>C | CA345556477 | NLRP3 | c.1246G>C (p.Val416Leu) c.1111G>C (p.Val371Leu) c.1252G>C (p.Val418Leu) n.1427G>C | |
1 | g.247424695G= | CA1232098148 | NLRP3 | c.1246G= (p.Val416=) c.1111G= (p.Val371=) c.1252G= (p.Val418=) n.1427G= | |
1 | g.247424695G>T | CA1495002 | NLRP3 | c.1246G>T (p.Val416Leu) c.1111G>T (p.Val371Leu) c.1252G>T (p.Val418Leu) n.1427G>T | ClinVar dbSNP ExAC gnomAD v2 |
1 | g.247424698_247424699del | CA2748523139 | NLRP3 | c.1249_1250del (p.Cys417HisfsTer?) c.1114_1115del (p.Cys372HisfsTer?) c.1255_1256del (p.Cys419HisfsTer?) n.1430_1431del | |
1 | g.247424696T>A | CA345556478 | NLRP3 | c.1247T>A (p.Val416Glu) c.1112T>A (p.Val371Glu) c.1253T>A (p.Val418Glu) n.1428T>A | |
1 | g.247424696T>C | CA345556479 | NLRP3 | c.1247T>C (p.Val416Ala) c.1112T>C (p.Val371Ala) c.1253T>C (p.Val418Ala) n.1428T>C | dbSNP |
1 | g.247424696T>G | CA345556480 | NLRP3 | c.1247T>G (p.Val416Gly) c.1112T>G (p.Val371Gly) c.1253T>G (p.Val418Gly) n.1428T>G | |
1 | g.247424696T= | CA1232098149 | NLRP3 | c.1247T= (p.Val416=) c.1112T= (p.Val371=) c.1253T= (p.Val418=) n.1428T= | |
1 | g.247424697G>A | CA424582706 | NLRP3 | c.1248G>A (p.Val416=) c.1113G>A (p.Val371=) c.1254G>A (p.Val418=) n.1429G>A | |
1 | g.247424697G>C | CA424582708 | NLRP3 | c.1248G>C (p.Val416=) c.1113G>C (p.Val371=) c.1254G>C (p.Val418=) n.1429G>C | |
1 | g.247424697G>T | CA424582707 | NLRP3 | c.1248G>T (p.Val416=) c.1113G>T (p.Val371=) c.1254G>T (p.Val418=) n.1429G>T | |
1 | g.247424698T>A | CA345556482 | NLRP3 | c.1249T>A (p.Cys417Ser) c.1114T>A (p.Cys372Ser) c.1255T>A (p.Cys419Ser) n.1430T>A | |
1 | g.247424698T>C | CA345556483 | NLRP3 | c.1249T>C (p.Cys417Arg) c.1114T>C (p.Cys372Arg) c.1255T>C (p.Cys419Arg) n.1430T>C | |
1 | g.247424698T>G | CA345556481 | NLRP3 | c.1249T>G (p.Cys417Gly) c.1114T>G (p.Cys372Gly) c.1255T>G (p.Cys419Gly) n.1430T>G | |
1 | g.247424699G>A | CA345556486 | NLRP3 | c.1250G>A (p.Cys417Tyr) c.1115G>A (p.Cys372Tyr) c.1256G>A (p.Cys419Tyr) n.1431G>A | |
1 | g.247424699G>C | CA345556484 | NLRP3 | c.1250G>C (p.Cys417Ser) c.1115G>C (p.Cys372Ser) c.1256G>C (p.Cys419Ser) n.1431G>C | |
1 | g.247424699G>T | CA345556485 | NLRP3 | c.1250G>T (p.Cys417Phe) c.1115G>T (p.Cys372Phe) c.1256G>T (p.Cys419Phe) n.1431G>T | |
1 | g.247424700C>A | CA345556487 | NLRP3 | c.1251C>A (p.Cys417Ter) c.1116C>A (p.Cys372Ter) c.1257C>A (p.Cys419Ter) n.1432C>A | |
1 | g.247424700C= | CA1232098150 | NLRP3 | c.1251C= (p.Cys417=) c.1116C= (p.Cys372=) c.1257C= (p.Cys419=) n.1432C= | |
1 | g.247424700C>G | CA345556488 | NLRP3 | c.1251C>G (p.Cys417Trp) c.1116C>G (p.Cys372Trp) c.1257C>G (p.Cys419Trp) n.1432C>G | |
1 | g.247424700C>T | CA424582709 | NLRP3 | c.1251C>T (p.Cys417=) c.1116C>T (p.Cys372=) c.1257C>T (p.Cys419=) n.1432C>T | dbSNP gnomAD v4 |
1 | g.247424701A>C | CA345556489 | NLRP3 | c.1252A>C (p.Thr418Pro) c.1117A>C (p.Thr373Pro) c.1258A>C (p.Thr420Pro) n.1433A>C | |
1 | g.247424701A>G | CA345556490 | NLRP3 | c.1252A>G (p.Thr418Ala) c.1117A>G (p.Thr373Ala) c.1258A>G (p.Thr420Ala) n.1433A>G | |
1 | g.247424701A>T | CA345556491 | NLRP3 | c.1252A>T (p.Thr418Ser) c.1117A>T (p.Thr373Ser) c.1258A>T (p.Thr420Ser) n.1433A>T | |
1 | g.247424702C>A | CA345556492 | NLRP3 | c.1253C>A (p.Thr418Asn) c.1118C>A (p.Thr373Asn) c.1259C>A (p.Thr420Asn) n.1434C>A | |
1 | g.247424702C>G | CA345556493 | NLRP3 | c.1253C>G (p.Thr418Ser) c.1118C>G (p.Thr373Ser) c.1259C>G (p.Thr420Ser) n.1434C>G | |
1 | g.247424702C>T | CA345556494 | NLRP3 | c.1253C>T (p.Thr418Ile) c.1118C>T (p.Thr373Ile) c.1259C>T (p.Thr420Ile) n.1434C>T | |
1 | g.247424703T>A | CA424582710 | NLRP3 | c.1254T>A (p.Thr418=) c.1119T>A (p.Thr373=) c.1260T>A (p.Thr420=) n.1435T>A | |
1 | g.247424703T>C | CA424582711 | NLRP3 | c.1254T>C (p.Thr418=) c.1119T>C (p.Thr373=) c.1260T>C (p.Thr420=) n.1435T>C | gnomAD v4 |
1 | g.247424703T>G | CA424582712 | NLRP3 | c.1254T>G (p.Thr418=) c.1119T>G (p.Thr373=) c.1260T>G (p.Thr420=) n.1435T>G | |
1 | g.247424704G>A | CA345556495 | NLRP3 | c.1255G>A (p.Gly419Arg) c.1120G>A (p.Gly374Arg) c.1261G>A (p.Gly421Arg) n.1436G>A | COSMIC |
1 | g.247424704G>C | CA345556496 | NLRP3 | c.1255G>C (p.Gly419Arg) c.1120G>C (p.Gly374Arg) c.1261G>C (p.Gly421Arg) n.1436G>C | |
1 | g.247424704G>T | CA345556497 | NLRP3 | c.1255G>T (p.Gly419Ter) c.1120G>T (p.Gly374Ter) c.1261G>T (p.Gly421Ter) n.1436G>T | |
1 | g.247424705del | CA2843650040 | NLRP3 | c.1256del (p.Gly419AspfsTer2) c.1121del (p.Gly374AspfsTer2) c.1262del (p.Gly421AspfsTer2) n.1437del | |
1 | g.247424705G>A | CA345556500 | NLRP3 | c.1256G>A (p.Gly419Glu) c.1121G>A (p.Gly374Glu) c.1262G>A (p.Gly421Glu) n.1437G>A | |
1 | g.247424705G>C | CA345556498 | NLRP3 | c.1256G>C (p.Gly419Ala) c.1121G>C (p.Gly374Ala) c.1262G>C (p.Gly421Ala) n.1437G>C | |
1 | g.247424705G>T | CA345556499 | NLRP3 | c.1256G>T (p.Gly419Val) c.1121G>T (p.Gly374Val) c.1262G>T (p.Gly421Val) n.1437G>T | |
1 | g.247424706A>C | CA424582713 | NLRP3 | c.1257A>C (p.Gly419=) c.1122A>C (p.Gly374=) c.1263A>C (p.Gly421=) n.1438A>C | |
1 | g.247424706A>G | CA424582714 | NLRP3 | c.1257A>G (p.Gly419=) c.1122A>G (p.Gly374=) c.1263A>G (p.Gly421=) n.1438A>G | gnomAD v4 |
1 | g.247424706A>T | CA424582715 | NLRP3 | c.1257A>T (p.Gly419=) c.1122A>T (p.Gly374=) c.1263A>T (p.Gly421=) n.1438A>T | |
1 | g.247424707C>A | CA345556501 | NLRP3 | c.1258C>A (p.Leu420Met) c.1123C>A (p.Leu375Met) c.1264C>A (p.Leu422Met) n.1439C>A | |
1 | g.247424707C>G | CA345556502 | NLRP3 | c.1258C>G (p.Leu420Val) c.1123C>G (p.Leu375Val) c.1264C>G (p.Leu422Val) n.1439C>G | |
1 | g.247424707C>T | CA424582716 | NLRP3 | c.1258C>T (p.Leu420=) c.1123C>T (p.Leu375=) c.1264C>T (p.Leu422=) n.1439C>T | |
1 | g.247424708T>A | CA345556503 | NLRP3 | c.1259T>A (p.Leu420Gln) c.1124T>A (p.Leu375Gln) c.1265T>A (p.Leu422Gln) n.1440T>A | |
1 | g.247424708T>C | CA345556504 | NLRP3 | c.1259T>C (p.Leu420Pro) c.1124T>C (p.Leu375Pro) c.1265T>C (p.Leu422Pro) n.1440T>C | |
1 | g.247424708T>G | CA345556505 | NLRP3 | c.1259T>G (p.Leu420Arg) c.1124T>G (p.Leu375Arg) c.1265T>G (p.Leu422Arg) n.1440T>G | |
1 | g.247424709G>A | CA40691613 | NLRP3 | c.1260G>A (p.Leu420=) c.1125G>A (p.Leu375=) c.1266G>A (p.Leu422=) n.1441G>A | dbSNP gnomAD v4 COSMIC |
1 | g.247424709G>C | CA424582717 | NLRP3 | c.1260G>C (p.Leu420=) c.1125G>C (p.Leu375=) c.1266G>C (p.Leu422=) n.1441G>C | |
1 | g.247424709G= | CA1141921745 | NLRP3 | c.1260G= (p.Leu420=) c.1125G= (p.Leu375=) c.1266G= (p.Leu422=) n.1441G= | |
1 | g.247424709G>T | CA424582718 | NLRP3 | c.1260G>T (p.Leu420=) c.1125G>T (p.Leu375=) c.1266G>T (p.Leu422=) n.1441G>T | |
1 | g.247424710A>C | CA345556506 | NLRP3 | c.1261A>C (p.Lys421Gln) c.1126A>C (p.Lys376Gln) c.1267A>C (p.Lys423Gln) n.1442A>C | |
1 | g.247424710A>G | CA345556507 | NLRP3 | c.1261A>G (p.Lys421Glu) c.1126A>G (p.Lys376Glu) c.1267A>G (p.Lys423Glu) n.1442A>G | |
1 | g.247424710A>T | CA345556508 | NLRP3 | c.1261A>T (p.Lys421Ter) c.1126A>T (p.Lys376Ter) c.1267A>T (p.Lys423Ter) n.1442A>T | |
1 | g.247424711A>C | CA345556509 | NLRP3 | c.1262A>C (p.Lys421Thr) c.1127A>C (p.Lys376Thr) c.1268A>C (p.Lys423Thr) n.1443A>C | |
1 | g.247424711A>G | CA345556510 | NLRP3 | c.1262A>G (p.Lys421Arg) c.1127A>G (p.Lys376Arg) c.1268A>G (p.Lys423Arg) n.1443A>G | |
1 | g.247424711A>T | CA345556511 | NLRP3 | c.1262A>T (p.Lys421Ile) c.1127A>T (p.Lys376Ile) c.1268A>T (p.Lys423Ile) n.1443A>T | |
1 | g.247424712A>C | CA345556513 | NLRP3 | c.1263A>C (p.Lys421Asn) c.1128A>C (p.Lys376Asn) c.1269A>C (p.Lys423Asn) n.1444A>C | |
1 | g.247424712A>G | CA424582719 | NLRP3 | c.1263A>G (p.Lys421=) c.1128A>G (p.Lys376=) c.1269A>G (p.Lys423=) n.1444A>G | |
1 | g.247424712A>T | CA345556512 | NLRP3 | c.1263A>T (p.Lys421Asn) c.1128A>T (p.Lys376Asn) c.1269A>T (p.Lys423Asn) n.1444A>T | |
1 | g.247424713C>A | CA345556514 | NLRP3 | c.1264C>A (p.Gln422Lys) c.1129C>A (p.Gln377Lys) c.1270C>A (p.Gln424Lys) n.1445C>A | dbSNP |
1 | g.247424713C= | CA1232098156 | NLRP3 | c.1264C= (p.Gln422=) c.1129C= (p.Gln377=) c.1270C= (p.Gln424=) n.1445C= | |
1 | g.247424713C>G | CA345556516 | NLRP3 | c.1264C>G (p.Gln422Glu) c.1129C>G (p.Gln377Glu) c.1270C>G (p.Gln424Glu) n.1445C>G | |
1 | g.247424713C>T | CA345556515 | NLRP3 | c.1264C>T (p.Gln422Ter) c.1129C>T (p.Gln377Ter) c.1270C>T (p.Gln424Ter) n.1445C>T | |
1 | g.247424714A>C | CA345556517 | NLRP3 | c.1265A>C (p.Gln422Pro) c.1130A>C (p.Gln377Pro) c.1271A>C (p.Gln424Pro) n.1446A>C | gnomAD v4 |
1 | g.247424714A>G | CA345556518 | NLRP3 | c.1265A>G (p.Gln422Arg) c.1130A>G (p.Gln377Arg) c.1271A>G (p.Gln424Arg) n.1446A>G | |
1 | g.247424714A>T | CA345556519 | NLRP3 | c.1265A>T (p.Gln422Leu) c.1130A>T (p.Gln377Leu) c.1271A>T (p.Gln424Leu) n.1446A>T | |
1 | g.247424715G>A | CA424582720 | NLRP3 | c.1266G>A (p.Gln422=) c.1131G>A (p.Gln377=) c.1272G>A (p.Gln424=) n.1447G>A | |
1 | g.247424715G>C | CA345556520 | NLRP3 | c.1266G>C (p.Gln422His) c.1131G>C (p.Gln377His) c.1272G>C (p.Gln424His) n.1447G>C | |
1 | g.247424715G>T | CA345556521 | NLRP3 | c.1266G>T (p.Gln422His) c.1131G>T (p.Gln377His) c.1272G>T (p.Gln424His) n.1447G>T | |
1 | g.247424716C>A | CA345556522 | NLRP3 | c.1267C>A (p.Gln423Lys) c.1132C>A (p.Gln378Lys) c.1273C>A (p.Gln425Lys) n.1448C>A | |
1 | g.247424716C>G | CA345556523 | NLRP3 | c.1267C>G (p.Gln423Glu) c.1132C>G (p.Gln378Glu) c.1273C>G (p.Gln425Glu) n.1448C>G | |
1 | g.247424716C>T | CA345556524 | NLRP3 | c.1267C>T (p.Gln423Ter) c.1132C>T (p.Gln378Ter) c.1273C>T (p.Gln425Ter) n.1448C>T | |
1 | g.247424717A>C | CA345556525 | NLRP3 | c.1268A>C (p.Gln423Pro) c.1133A>C (p.Gln378Pro) c.1274A>C (p.Gln425Pro) n.1449A>C | |
1 | g.247424717A>G | CA345556526 | NLRP3 | c.1268A>G (p.Gln423Arg) c.1133A>G (p.Gln378Arg) c.1274A>G (p.Gln425Arg) n.1449A>G | |
1 | g.247424717A>T | CA345556527 | NLRP3 | c.1268A>T (p.Gln423Leu) c.1133A>T (p.Gln378Leu) c.1274A>T (p.Gln425Leu) n.1449A>T | |
1 | g.247424718G>A | CA1495004 | NLRP3 | c.1269G>A (p.Gln423=) c.1134G>A (p.Gln378=) c.1275G>A (p.Gln425=) n.1450G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.247424718G>C | CA345556529 | NLRP3 | c.1269G>C (p.Gln423His) c.1134G>C (p.Gln378His) c.1275G>C (p.Gln425His) n.1450G>C | |
1 | g.247424718G= | CA1143456860 | NLRP3 | c.1269G= (p.Gln423=) c.1134G= (p.Gln378=) c.1275G= (p.Gln425=) n.1450G= | |
1 | g.247424718G>T | CA345556528 | NLRP3 | c.1269G>T (p.Gln423His) c.1134G>T (p.Gln378His) c.1275G>T (p.Gln425His) n.1450G>T | |
1 | g.247424719A>C | CA345556530 | NLRP3 | c.1270A>C (p.Met424Leu) c.1135A>C (p.Met379Leu) c.1276A>C (p.Met426Leu) n.1451A>C | |
1 | g.247424719A>G | CA345556531 | NLRP3 | c.1270A>G (p.Met424Val) c.1135A>G (p.Met379Val) c.1276A>G (p.Met426Val) n.1451A>G | gnomAD v4 |
1 | g.247424719A>T | CA345556532 | NLRP3 | c.1270A>T (p.Met424Leu) c.1135A>T (p.Met379Leu) c.1276A>T (p.Met426Leu) n.1451A>T | |
1 | g.247424720T>A | CA345556533 | NLRP3 | c.1271T>A (p.Met424Lys) c.1136T>A (p.Met379Lys) c.1277T>A (p.Met426Lys) n.1452T>A | |
1 | g.247424720T>C | CA345556534 | NLRP3 | c.1271T>C (p.Met424Thr) c.1136T>C (p.Met379Thr) c.1277T>C (p.Met426Thr) n.1452T>C | gnomAD v4 |
1 | g.247424720T>G | CA345556535 | NLRP3 | c.1271T>G (p.Met424Arg) c.1136T>G (p.Met379Arg) c.1277T>G (p.Met426Arg) n.1452T>G | gnomAD v4 |
1 | g.247424721G>A | CA345556536 | NLRP3 | c.1272G>A (p.Met424Ile) c.1137G>A (p.Met379Ile) c.1278G>A (p.Met426Ile) n.1453G>A | gnomAD v4 COSMIC |
1 | g.247424721G>C | CA345556537 | NLRP3 | c.1272G>C (p.Met424Ile) c.1137G>C (p.Met379Ile) c.1278G>C (p.Met426Ile) n.1453G>C | |
1 | g.247424721G>T | CA345556538 | NLRP3 | c.1272G>T (p.Met424Ile) c.1137G>T (p.Met379Ile) c.1278G>T (p.Met426Ile) n.1453G>T | |
1 | g.247424722G>A | CA345556539 | NLRP3 | c.1273G>A (p.Glu425Lys) c.1138G>A (p.Glu380Lys) c.1279G>A (p.Glu427Lys) n.1454G>A | |
1 | g.247424722G>C | CA345556540 | NLRP3 | c.1273G>C (p.Glu425Gln) c.1138G>C (p.Glu380Gln) c.1279G>C (p.Glu427Gln) n.1454G>C | dbSNP COSMIC |
1 | g.247424722G= | CA1232098159 | NLRP3 | c.1273G= (p.Glu425=) c.1138G= (p.Glu380=) c.1279G= (p.Glu427=) n.1454G= | |
1 | g.247424722G>T | CA345556541 | NLRP3 | c.1273G>T (p.Glu425Ter) c.1138G>T (p.Glu380Ter) c.1279G>T (p.Glu427Ter) n.1454G>T | dbSNP |
1 | g.247424723A= | CA1232098160 | NLRP3 | c.1274A= (p.Glu425=) c.1139A= (p.Glu380=) c.1280A= (p.Glu427=) n.1455A= | |
1 | g.247424723A>C | CA345556544 | NLRP3 | c.1274A>C (p.Glu425Ala) c.1139A>C (p.Glu380Ala) c.1280A>C (p.Glu427Ala) n.1455A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.247424723A>G | CA345556543 | NLRP3 | c.1274A>G (p.Glu425Gly) c.1139A>G (p.Glu380Gly) c.1280A>G (p.Glu427Gly) n.1455A>G | |
1 | g.247424723A>T | CA345556542 | NLRP3 | c.1274A>T (p.Glu425Val) c.1139A>T (p.Glu380Val) c.1280A>T (p.Glu427Val) n.1455A>T | |
1 | g.247424724G>A | CA424582721 | NLRP3 | c.1275G>A (p.Glu425=) c.1140G>A (p.Glu380=) c.1281G>A (p.Glu427=) n.1456G>A | COSMIC |
1 | g.247424724G>C | CA345556545 | NLRP3 | c.1275G>C (p.Glu425Asp) c.1140G>C (p.Glu380Asp) c.1281G>C (p.Glu427Asp) n.1456G>C | |
1 | g.247424724G>T | CA345556546 | NLRP3 | c.1275G>T (p.Glu425Asp) c.1140G>T (p.Glu380Asp) c.1281G>T (p.Glu427Asp) n.1456G>T | |
1 | g.247424725A= | CA1143518617 | NLRP3 | c.1276A= (p.Ser426=) c.1141A= (p.Ser381=) c.1282A= (p.Ser428=) n.1457A= | |
1 | g.247424725A>C | CA345556547 | NLRP3 | c.1276A>C (p.Ser426Arg) c.1141A>C (p.Ser381Arg) c.1282A>C (p.Ser428Arg) n.1457A>C | |
1 | g.247424725A>G | CA40691632 | NLRP3 | c.1276A>G (p.Ser426Gly) c.1141A>G (p.Ser381Gly) c.1282A>G (p.Ser428Gly) n.1457A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247424725A>T | CA345556548 | NLRP3 | c.1276A>T (p.Ser426Cys) c.1141A>T (p.Ser381Cys) c.1282A>T (p.Ser428Cys) n.1457A>T | |
1 | g.247424726G>A | CA345556549 | NLRP3 | c.1277G>A (p.Ser426Asn) c.1142G>A (p.Ser381Asn) c.1283G>A (p.Ser428Asn) n.1458G>A | ClinVar gnomAD v4 |
1 | g.247424726G>C | CA345556551 | NLRP3 | c.1277G>C (p.Ser426Thr) c.1142G>C (p.Ser381Thr) c.1283G>C (p.Ser428Thr) n.1458G>C | |
1 | g.247424726G>T | CA345556550 | NLRP3 | c.1277G>T (p.Ser426Ile) c.1142G>T (p.Ser381Ile) c.1283G>T (p.Ser428Ile) n.1458G>T | |
1 | g.247424727T>A | CA345556552 | NLRP3 | c.1278T>A (p.Ser426Arg) c.1143T>A (p.Ser381Arg) c.1284T>A (p.Ser428Arg) n.1459T>A | dbSNP gnomAD v4 |
1 | g.247424727T>C | CA424582722 | NLRP3 | c.1278T>C (p.Ser426=) c.1143T>C (p.Ser381=) c.1284T>C (p.Ser428=) n.1459T>C | dbSNP gnomAD v4 |
1 | g.247424727T>G | CA345556553 | NLRP3 | c.1278T>G (p.Ser426Arg) c.1143T>G (p.Ser381Arg) c.1284T>G (p.Ser428Arg) n.1459T>G | |
1 | g.247424727T= | CA1232098163 | NLRP3 | c.1278T= (p.Ser426=) c.1143T= (p.Ser381=) c.1284T= (p.Ser428=) n.1459T= | |
1 | g.247424728G>A | CA345556554 | NLRP3 | c.1279G>A (p.Gly427Ser) c.1144G>A (p.Gly382Ser) c.1285G>A (p.Gly429Ser) n.1460G>A | gnomAD v4 |
1 | g.247424728G>C | CA345556555 | NLRP3 | c.1279G>C (p.Gly427Arg) c.1144G>C (p.Gly382Arg) c.1285G>C (p.Gly429Arg) n.1460G>C | |
1 | g.247424728G>T | CA345556556 | NLRP3 | c.1279G>T (p.Gly427Cys) c.1144G>T (p.Gly382Cys) c.1285G>T (p.Gly429Cys) n.1460G>T | COSMIC |
1 | g.247424729G>A | CA345556557 | NLRP3 | c.1280G>A (p.Gly427Asp) c.1145G>A (p.Gly382Asp) c.1286G>A (p.Gly429Asp) n.1461G>A | |
1 | g.247424729G>C | CA345556558 | NLRP3 | c.1280G>C (p.Gly427Ala) c.1145G>C (p.Gly382Ala) c.1286G>C (p.Gly429Ala) n.1461G>C | |
1 | g.247424729G>T | CA345556559 | NLRP3 | c.1280G>T (p.Gly427Val) c.1145G>T (p.Gly382Val) c.1286G>T (p.Gly429Val) n.1461G>T | |
1 | g.247424730C>A | CA424582723 | NLRP3 | c.1281C>A (p.Gly427=) c.1146C>A (p.Gly382=) c.1287C>A (p.Gly429=) n.1462C>A | |
1 | g.247424730C>G | CA424582724 | NLRP3 | c.1281C>G (p.Gly427=) c.1146C>G (p.Gly382=) c.1287C>G (p.Gly429=) n.1462C>G | |
1 | g.247424730C>T | CA424582725 | NLRP3 | c.1281C>T (p.Gly427=) c.1146C>T (p.Gly382=) c.1287C>T (p.Gly429=) n.1462C>T | |
1 | g.247424731A>C | CA345556560 | NLRP3 | c.1282A>C (p.Lys428Gln) c.1147A>C (p.Lys383Gln) c.1288A>C (p.Lys430Gln) n.1463A>C | |
1 | g.247424731A>G | CA345556561 | NLRP3 | c.1282A>G (p.Lys428Glu) c.1147A>G (p.Lys383Glu) c.1288A>G (p.Lys430Glu) n.1463A>G | |
1 | g.247424731A>T | CA345556562 | NLRP3 | c.1282A>T (p.Lys428Ter) c.1147A>T (p.Lys383Ter) c.1288A>T (p.Lys430Ter) n.1463A>T | |
1 | g.247424732A>C | CA345556565 | NLRP3 | c.1283A>C (p.Lys428Thr) c.1148A>C (p.Lys383Thr) c.1289A>C (p.Lys430Thr) n.1464A>C | |
1 | g.247424732A>G | CA345556563 | NLRP3 | c.1283A>G (p.Lys428Arg) c.1148A>G (p.Lys383Arg) c.1289A>G (p.Lys430Arg) n.1464A>G | gnomAD v4 |
1 | g.247424732A>T | CA345556564 | NLRP3 | c.1283A>T (p.Lys428Met) c.1148A>T (p.Lys383Met) c.1289A>T (p.Lys430Met) n.1464A>T | |
1 | g.247424733G>A | CA424582726 | NLRP3 | c.1284G>A (p.Lys428=) c.1149G>A (p.Lys383=) c.1290G>A (p.Lys430=) n.1465G>A | dbSNP |
1 | g.247424733G>C | CA345556566 | NLRP3 | c.1284G>C (p.Lys428Asn) c.1149G>C (p.Lys383Asn) c.1290G>C (p.Lys430Asn) n.1465G>C | |
1 | g.247424733G= | CA1232098164 | NLRP3 | c.1284G= (p.Lys428=) c.1149G= (p.Lys383=) c.1290G= (p.Lys430=) n.1465G= | |
1 | g.247424733G>T | CA345556567 | NLRP3 | c.1284G>T (p.Lys428Asn) c.1149G>T (p.Lys383Asn) c.1290G>T (p.Lys430Asn) n.1465G>T | dbSNP |
1 | g.247424734A= | CA1232098165 | NLRP3 | c.1285A= (p.Ser429=) c.1150A= (p.Ser384=) c.1291A= (p.Ser431=) n.1466A= | |
1 | g.247424734A>C | CA345556568 | NLRP3 | c.1285A>C (p.Ser429Arg) c.1150A>C (p.Ser384Arg) c.1291A>C (p.Ser431Arg) n.1466A>C | |
1 | g.247424734A>G | CA40691637 | NLRP3 | c.1285A>G (p.Ser429Gly) c.1150A>G (p.Ser384Gly) c.1291A>G (p.Ser431Gly) n.1466A>G | dbSNP gnomAD v4 |
1 | g.247424734A>T | CA345556569 | NLRP3 | c.1285A>T (p.Ser429Cys) c.1150A>T (p.Ser384Cys) c.1291A>T (p.Ser431Cys) n.1466A>T | |
1 | g.247424735G>A | CA1495005 | NLRP3 | c.1286G>A (p.Ser429Asn) c.1151G>A (p.Ser384Asn) c.1292G>A (p.Ser431Asn) n.1467G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.247424735G>C | CA345556570 | NLRP3 | c.1286G>C (p.Ser429Thr) c.1151G>C (p.Ser384Thr) c.1292G>C (p.Ser431Thr) n.1467G>C | dbSNP gnomAD v2 gnomAD v4 |
1 | g.247424735G= | CA1232098168 | NLRP3 | c.1286G= (p.Ser429=) c.1151G= (p.Ser384=) c.1292G= (p.Ser431=) n.1467G= | |
1 | g.247424735G>T | CA345556571 | NLRP3 | c.1286G>T (p.Ser429Ile) c.1151G>T (p.Ser384Ile) c.1292G>T (p.Ser431Ile) n.1467G>T | |
1 | g.247424736C>A | CA345556572 | NLRP3 | c.1287C>A (p.Ser429Arg) c.1152C>A (p.Ser384Arg) c.1293C>A (p.Ser431Arg) n.1468C>A | |
1 | g.247424736C>G | CA345556573 | NLRP3 | c.1287C>G (p.Ser429Arg) c.1152C>G (p.Ser384Arg) c.1293C>G (p.Ser431Arg) n.1468C>G | |
1 | g.247424736C>T | CA424582727 | NLRP3 | c.1287C>T (p.Ser429=) c.1152C>T (p.Ser384=) c.1293C>T (p.Ser431=) n.1468C>T | |
1 | g.247424737C>A | CA345556575 | NLRP3 | c.1288C>A (p.Leu430Ile) c.1153C>A (p.Leu385Ile) c.1294C>A (p.Leu432Ile) n.1469C>A | |
1 | g.247424737C>G | CA345556576 | NLRP3 | c.1288C>G (p.Leu430Val) c.1153C>G (p.Leu385Val) c.1294C>G (p.Leu432Val) n.1469C>G | |
1 | g.247424737C>T | CA345556574 | NLRP3 | c.1288C>T (p.Leu430Phe) c.1153C>T (p.Leu385Phe) c.1294C>T (p.Leu432Phe) n.1469C>T | |
1 | g.247424738T>A | CA345556577 | NLRP3 | c.1289T>A (p.Leu430His) c.1154T>A (p.Leu385His) c.1295T>A (p.Leu432His) n.1470T>A | |
1 | g.247424738T>C | CA345556578 | NLRP3 | c.1289T>C (p.Leu430Pro) c.1154T>C (p.Leu385Pro) c.1295T>C (p.Leu432Pro) n.1470T>C | |
1 | g.247424738T>G | CA345556579 | NLRP3 | c.1289T>G (p.Leu430Arg) c.1154T>G (p.Leu385Arg) c.1295T>G (p.Leu432Arg) n.1470T>G | |
1 | g.247424739del | CA2843650041 | NLRP3 | c.1290del (p.Ala431ProfsTer?) c.1155del (p.Ala386ProfsTer?) c.1296del (p.Ala433ProfsTer?) n.1471del | |
1 | g.247424739T>A | CA424582728 | NLRP3 | c.1290T>A (p.Leu430=) c.1155T>A (p.Leu385=) c.1296T>A (p.Leu432=) n.1471T>A | |
1 | g.247424739T>C | CA424582729 | NLRP3 | c.1290T>C (p.Leu430=) c.1155T>C (p.Leu385=) c.1296T>C (p.Leu432=) n.1471T>C | dbSNP gnomAD v2 gnomAD v4 |
1 | g.247424739T>G | CA424582730 | NLRP3 | c.1290T>G (p.Leu430=) c.1155T>G (p.Leu385=) c.1296T>G (p.Leu432=) n.1471T>G | |
1 | g.247424739T= | CA1232098172 | NLRP3 | c.1290T= (p.Leu430=) c.1155T= (p.Leu385=) c.1296T= (p.Leu432=) n.1471T= | |
1 | g.247424740G>A | CA345556580 | NLRP3 | c.1291G>A (p.Ala431Thr) c.1156G>A (p.Ala386Thr) c.1297G>A (p.Ala433Thr) n.1472G>A | |
1 | g.247424740G>C | CA345556581 | NLRP3 | c.1291G>C (p.Ala431Pro) c.1156G>C (p.Ala386Pro) c.1297G>C (p.Ala433Pro) n.1472G>C | |
1 | g.247424740G>T | CA345556582 | NLRP3 | c.1291G>T (p.Ala431Ser) c.1156G>T (p.Ala386Ser) c.1297G>T (p.Ala433Ser) n.1472G>T | |
1 | g.247424741C>A | CA345556583 | NLRP3 | c.1292C>A (p.Ala431Asp) c.1157C>A (p.Ala386Asp) c.1298C>A (p.Ala433Asp) n.1473C>A | |
1 | g.247424741C>G | CA345556585 | NLRP3 | c.1292C>G (p.Ala431Gly) c.1157C>G (p.Ala386Gly) c.1298C>G (p.Ala433Gly) n.1473C>G | |
1 | g.247424741C>T | CA345556584 | NLRP3 | c.1292C>T (p.Ala431Val) c.1157C>T (p.Ala386Val) c.1298C>T (p.Ala433Val) n.1473C>T | gnomAD v4 |
1 | g.247424743del | CA2651426263 | NLRP3 | c.1294del (p.Gln432ArgfsTer?) c.1159del (p.Gln387ArgfsTer?) c.1300del (p.Gln434ArgfsTer?) n.1475del | gnomAD v4 |
1 | g.247424742C>A | CA424582731 | NLRP3 | c.1293C>A (p.Ala431=) c.1158C>A (p.Ala386=) c.1299C>A (p.Ala433=) n.1474C>A | COSMIC |
1 | g.247424742C= | CA1232098174 | NLRP3 | c.1293C= (p.Ala431=) c.1158C= (p.Ala386=) c.1299C= (p.Ala433=) n.1474C= | |
1 | g.247424742C>G | CA424582732 | NLRP3 | c.1293C>G (p.Ala431=) c.1158C>G (p.Ala386=) c.1299C>G (p.Ala433=) n.1474C>G | |
1 | g.247424742C>T | CA1495006 | NLRP3 | c.1293C>T (p.Ala431=) c.1158C>T (p.Ala386=) c.1299C>T (p.Ala433=) n.1474C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.247424743C>A | CA345556586 | NLRP3 | c.1294C>A (p.Gln432Lys) c.1159C>A (p.Gln387Lys) c.1300C>A (p.Gln434Lys) n.1475C>A | |
1 | g.247424743C>G | CA345556587 | NLRP3 | c.1294C>G (p.Gln432Glu) c.1159C>G (p.Gln387Glu) c.1300C>G (p.Gln434Glu) n.1475C>G | |
1 | g.247424743C>T | CA345556588 | NLRP3 | c.1294C>T (p.Gln432Ter) c.1159C>T (p.Gln387Ter) c.1300C>T (p.Gln434Ter) n.1475C>T | |
1 | g.247424744A>C | CA345556589 | NLRP3 | c.1295A>C (p.Gln432Pro) c.1160A>C (p.Gln387Pro) c.1301A>C (p.Gln434Pro) n.1476A>C | |
1 | g.247424744A>G | CA345556591 | NLRP3 | c.1295A>G (p.Gln432Arg) c.1160A>G (p.Gln387Arg) c.1301A>G (p.Gln434Arg) n.1476A>G | |
1 | g.247424744A>T | CA345556590 | NLRP3 | c.1295A>T (p.Gln432Leu) c.1160A>T (p.Gln387Leu) c.1301A>T (p.Gln434Leu) n.1476A>T | |
1 | g.247424745G>A | CA424582733 | NLRP3 | c.1296G>A (p.Gln432=) c.1161G>A (p.Gln387=) c.1302G>A (p.Gln434=) n.1477G>A | |
1 | g.247424745G>C | CA345556592 | NLRP3 | c.1296G>C (p.Gln432His) c.1161G>C (p.Gln387His) c.1302G>C (p.Gln434His) n.1477G>C | |
1 | g.247424745G>T | CA345556593 | NLRP3 | c.1296G>T (p.Gln432His) c.1161G>T (p.Gln387His) c.1302G>T (p.Gln434His) n.1477G>T | |
1 | g.247424746A= | CA1232098178 | NLRP3 | c.1297A= (p.Thr433=) c.1162A= (p.Thr388=) c.1303A= (p.Thr435=) n.1478A= | |
1 | g.247424746A>C | CA345556594 | NLRP3 | c.1297A>C (p.Thr433Pro) c.1162A>C (p.Thr388Pro) c.1303A>C (p.Thr435Pro) n.1478A>C | |
1 | g.247424746A>G | CA10577232 | NLRP3 | c.1297A>G (p.Thr433Ala) c.1162A>G (p.Thr388Ala) c.1303A>G (p.Thr435Ala) n.1478A>G | ClinVar dbSNP |
1 | g.247424746A>T | CA345556595 | NLRP3 | c.1297A>T (p.Thr433Ser) c.1162A>T (p.Thr388Ser) c.1303A>T (p.Thr435Ser) n.1478A>T | ClinVar |
1 | g.247424747C>A | CA345556596 | NLRP3 | c.1298C>A (p.Thr433Lys) c.1163C>A (p.Thr388Lys) c.1304C>A (p.Thr435Lys) n.1479C>A | |
1 | g.247424747C>G | CA345556597 | NLRP3 | c.1298C>G (p.Thr433Arg) c.1163C>G (p.Thr388Arg) c.1304C>G (p.Thr435Arg) n.1479C>G | |
1 | g.247424747C>T | CA345556598 | NLRP3 | c.1298C>T (p.Thr433Ile) c.1163C>T (p.Thr388Ile) c.1304C>T (p.Thr435Ile) n.1479C>T | |
1 | g.247424748A= | CA1232098181 | NLRP3 | c.1299A= (p.Thr433=) c.1164A= (p.Thr388=) c.1305A= (p.Thr435=) n.1480A= | |
1 | g.247424748A>C | CA424582736 | NLRP3 | c.1299A>C (p.Thr433=) c.1164A>C (p.Thr388=) c.1305A>C (p.Thr435=) n.1480A>C | |
1 | g.247424748A>G | CA424582734 | NLRP3 | c.1299A>G (p.Thr433=) c.1164A>G (p.Thr388=) c.1305A>G (p.Thr435=) n.1480A>G | dbSNP gnomAD v3 gnomAD v4 |
1 | g.247424748A>T | CA424582735 | NLRP3 | c.1299A>T (p.Thr433=) c.1164A>T (p.Thr388=) c.1305A>T (p.Thr435=) n.1480A>T | gnomAD v4 |
1 | g.247424749T>A | CA345556599 | NLRP3 | c.1300T>A (p.Ser434Thr) c.1165T>A (p.Ser389Thr) c.1306T>A (p.Ser436Thr) n.1481T>A | |
1 | g.247424749T>C | CA345556600 | NLRP3 | c.1300T>C (p.Ser434Pro) c.1165T>C (p.Ser389Pro) c.1306T>C (p.Ser436Pro) n.1481T>C | |
1 | g.247424749T>G | CA345556601 | NLRP3 | c.1300T>G (p.Ser434Ala) c.1165T>G (p.Ser389Ala) c.1306T>G (p.Ser436Ala) n.1481T>G | |
1 | g.247424750C>A | CA345556603 | NLRP3 | c.1301C>A (p.Ser434Tyr) c.1166C>A (p.Ser389Tyr) c.1307C>A (p.Ser436Tyr) n.1482C>A | |
1 | g.247424750C= | CA1232098183 | NLRP3 | c.1301C= (p.Ser434=) c.1166C= (p.Ser389=) c.1307C= (p.Ser436=) n.1482C= | |
1 | g.247424750C>G | CA345556602 | NLRP3 | c.1301C>G (p.Ser434Cys) c.1166C>G (p.Ser389Cys) c.1307C>G (p.Ser436Cys) n.1482C>G | COSMIC |
1 | g.247424750C>T | CA40691660 | NLRP3 | c.1301C>T (p.Ser434Phe) c.1166C>T (p.Ser389Phe) c.1307C>T (p.Ser436Phe) n.1482C>T | dbSNP gnomAD v4 |
1 | g.247424751C>A | CA424582737 | NLRP3 | c.1302C>A (p.Ser434=) c.1167C>A (p.Ser389=) c.1308C>A (p.Ser436=) n.1483C>A | |
1 | g.247424751C= | CA1140513023 | NLRP3 | c.1302C= (p.Ser434=) c.1167C= (p.Ser389=) c.1308C= (p.Ser436=) n.1483C= | |
1 | g.247424751C>G | CA424582738 | NLRP3 | c.1302C>G (p.Ser434=) c.1167C>G (p.Ser389=) c.1308C>G (p.Ser436=) n.1483C>G | |
1 | g.247424751C>T | CA1495007 | NLRP3 | c.1302C>T (p.Ser434=) c.1167C>T (p.Ser389=) c.1308C>T (p.Ser436=) n.1483C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247424752A>C | CA345556606 | NLRP3 | c.1303A>C (p.Lys435Gln) c.1168A>C (p.Lys390Gln) c.1309A>C (p.Lys437Gln) n.1484A>C | |
1 | g.247424752A>G | CA345556604 | NLRP3 | c.1303A>G (p.Lys435Glu) c.1168A>G (p.Lys390Glu) c.1309A>G (p.Lys437Glu) n.1484A>G | |
1 | g.247424752A>T | CA345556605 | NLRP3 | c.1303A>T (p.Lys435Ter) c.1168A>T (p.Lys390Ter) c.1309A>T (p.Lys437Ter) n.1484A>T | |
1 | g.247424753A>C | CA345556607 | NLRP3 | c.1304A>C (p.Lys435Thr) c.1169A>C (p.Lys390Thr) c.1310A>C (p.Lys437Thr) n.1485A>C | |
1 | g.247424753A>G | CA345556608 | NLRP3 | c.1304A>G (p.Lys435Arg) c.1169A>G (p.Lys390Arg) c.1310A>G (p.Lys437Arg) n.1485A>G | |
1 | g.247424753A>T | CA345556609 | NLRP3 | c.1304A>T (p.Lys435Met) c.1169A>T (p.Lys390Met) c.1310A>T (p.Lys437Met) n.1485A>T | |
1 | g.247424754G>A | CA424582739 | NLRP3 | c.1305G>A (p.Lys435=) c.1170G>A (p.Lys390=) c.1311G>A (p.Lys437=) n.1486G>A | ClinVar dbSNP gnomAD v4 COSMIC |
1 | g.247424754G>C | CA345556610 | NLRP3 | c.1305G>C (p.Lys435Asn) c.1170G>C (p.Lys390Asn) c.1311G>C (p.Lys437Asn) n.1486G>C | ClinVar |
1 | g.247424754G= | CA1232098196 | NLRP3 | c.1305G= (p.Lys435=) c.1170G= (p.Lys390=) c.1311G= (p.Lys437=) n.1486G= | |
1 | g.247424754G>T | CA345556611 | NLRP3 | c.1305G>T (p.Lys435Asn) c.1170G>T (p.Lys390Asn) c.1311G>T (p.Lys437Asn) n.1486G>T | |
1 | g.247424754_247424757delinsGACC | CA1232098193 | NLRP3 | c.1305_1308delinsGACC (p.Lys435=) c.1170_1173delinsGACC (p.Lys390=) c.1311_1314delinsGACC (p.Lys437=) n.1486_1489delinsGACC | |
1 | g.247424755A= | CA1142421403 | NLRP3 | c.1306A= (p.Thr436=) c.1171A= (p.Thr391=) c.1312A= (p.Thr438=) n.1487A= | |
1 | g.247424755A>C | CA281161 | NLRP3 | c.1306A>C (p.Thr436Pro) c.1171A>C (p.Thr391Pro) c.1312A>C (p.Thr438Pro) n.1487A>C | ClinVar dbSNP |
1 | g.247424755A>G | CA281165 | NLRP3 | c.1306A>G (p.Thr436Ala) c.1171A>G (p.Thr391Ala) c.1312A>G (p.Thr438Ala) n.1487A>G | ClinVar dbSNP |
1 | g.247424755A>T | CA345556612 | NLRP3 | c.1306A>T (p.Thr436Ser) c.1171A>T (p.Thr391Ser) c.1312A>T (p.Thr438Ser) n.1487A>T | gnomAD v4 |
1 | g.247424755_247424763delinsACCACCACC | CA1142421404 | NLRP3 | c.1306_1314delinsACCACCACC (p.Thr436=) c.1171_1179delinsACCACCACC (p.Thr391=) c.1312_1320delinsACCACCACC (p.Thr438=) n.1487_1495delinsACCACCACC | |
1 | g.247424761_247424763del | CA281169 | NLRP3 | c.1312_1314del (p.Thr438del) c.1177_1179del (p.Thr393del) c.1318_1320del (p.Thr440del) n.1493_1495del | ClinVar dbSNP |
1 | g.247424756C>A | CA281173 | NLRP3 | c.1307C>A (p.Thr436Asn) c.1172C>A (p.Thr391Asn) c.1313C>A (p.Thr438Asn) n.1488C>A | ClinVar dbSNP |
1 | g.247424756C= | CA1142421405 | NLRP3 | c.1307C= (p.Thr436=) c.1172C= (p.Thr391=) c.1313C= (p.Thr438=) n.1488C= | |
1 | g.247424756C>G | CA345556613 | NLRP3 | c.1307C>G (p.Thr436Ser) c.1172C>G (p.Thr391Ser) c.1313C>G (p.Thr438Ser) n.1488C>G | |
1 | g.247424756C>T | CA281177 | NLRP3 | c.1307C>T (p.Thr436Ile) c.1172C>T (p.Thr391Ile) c.1313C>T (p.Thr438Ile) n.1488C>T | ClinVar dbSNP |
1 | g.247424757C>A | CA424582740 | NLRP3 | c.1308C>A (p.Thr436=) c.1173C>A (p.Thr391=) c.1314C>A (p.Thr438=) n.1489C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247424757C= | CA1232098227 | NLRP3 | c.1308C= (p.Thr436=) c.1173C= (p.Thr391=) c.1314C= (p.Thr438=) n.1489C= | |
1 | g.247424757C>G | CA424582741 | NLRP3 | c.1308C>G (p.Thr436=) c.1173C>G (p.Thr391=) c.1314C>G (p.Thr438=) n.1489C>G | gnomAD v4 |
1 | g.247424757C>T | CA424582742 | NLRP3 | c.1308C>T (p.Thr436=) c.1173C>T (p.Thr391=) c.1314C>T (p.Thr438=) n.1489C>T | dbSNP gnomAD v4 |
1 | g.247424758A>C | CA345556614 | NLRP3 | c.1309A>C (p.Thr437Pro) c.1174A>C (p.Thr392Pro) c.1315A>C (p.Thr439Pro) n.1490A>C | |
1 | g.247424758A>G | CA345556616 | NLRP3 | c.1309A>G (p.Thr437Ala) c.1174A>G (p.Thr392Ala) c.1315A>G (p.Thr439Ala) n.1490A>G | |
1 | g.247424758A>T | CA345556615 | NLRP3 | c.1309A>T (p.Thr437Ser) c.1174A>T (p.Thr392Ser) c.1315A>T (p.Thr439Ser) n.1490A>T | |
1 | g.247424759C>A | CA345556617 | NLRP3 | c.1310C>A (p.Thr437Asn) c.1175C>A (p.Thr392Asn) c.1316C>A (p.Thr439Asn) n.1491C>A | |
1 | g.247424759C= | CA1232098231 | NLRP3 | c.1310C= (p.Thr437=) c.1175C= (p.Thr392=) c.1316C= (p.Thr439=) n.1491C= | |
1 | g.247424759C>G | CA345556618 | NLRP3 | c.1310C>G (p.Thr437Ser) c.1175C>G (p.Thr392Ser) c.1316C>G (p.Thr439Ser) n.1491C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247424759C>T | CA345556619 | NLRP3 | c.1310C>T (p.Thr437Ile) c.1175C>T (p.Thr392Ile) c.1316C>T (p.Thr439Ile) n.1491C>T | gnomAD v4 |
1 | g.247424760del | CA2838222490 | NLRP3 | c.1311del (p.Thr438ProfsTer?) c.1176del (p.Thr393ProfsTer?) c.1317del (p.Thr440ProfsTer?) n.1492del | |
1 | g.247424760C>A | CA424582743 | NLRP3 | c.1311C>A (p.Thr437=) c.1176C>A (p.Thr392=) c.1317C>A (p.Thr439=) n.1492C>A | |
1 | g.247424760C>G | CA424582744 | NLRP3 | c.1311C>G (p.Thr437=) c.1176C>G (p.Thr392=) c.1317C>G (p.Thr439=) n.1492C>G | |
1 | g.247424760C>T | CA424582745 | NLRP3 | c.1311C>T (p.Thr437=) c.1176C>T (p.Thr392=) c.1317C>T (p.Thr439=) n.1492C>T | gnomAD v4 |
1 | g.247424761A>C | CA345556620 | NLRP3 | c.1312A>C (p.Thr438Pro) c.1177A>C (p.Thr393Pro) c.1318A>C (p.Thr440Pro) n.1493A>C | |
1 | g.247424761A>G | CA345556621 | NLRP3 | c.1312A>G (p.Thr438Ala) c.1177A>G (p.Thr393Ala) c.1318A>G (p.Thr440Ala) n.1493A>G | |
1 | g.247424761A>T | CA345556622 | NLRP3 | c.1312A>T (p.Thr438Ser) c.1177A>T (p.Thr393Ser) c.1318A>T (p.Thr440Ser) n.1493A>T | |
1 | g.247424762C>A | CA345556623 | NLRP3 | c.1313C>A (p.Thr438Asn) c.1178C>A (p.Thr393Asn) c.1319C>A (p.Thr440Asn) n.1494C>A | |
1 | g.247424762C>G | CA345556624 | NLRP3 | c.1313C>G (p.Thr438Ser) c.1178C>G (p.Thr393Ser) c.1319C>G (p.Thr440Ser) n.1494C>G | |
1 | g.247424762C>T | CA345556625 | NLRP3 | c.1313C>T (p.Thr438Ile) c.1178C>T (p.Thr393Ile) c.1319C>T (p.Thr440Ile) n.1494C>T | gnomAD v4 |
1 | g.247424763C>A | CA424582746 | NLRP3 | c.1314C>A (p.Thr438=) c.1179C>A (p.Thr393=) c.1320C>A (p.Thr440=) n.1495C>A | |
1 | g.247424763C= | CA1143468300 | NLRP3 | c.1314C= (p.Thr438=) c.1179C= (p.Thr393=) c.1320C= (p.Thr440=) n.1495C= | |
1 | g.247424763C>G | CA424582747 | NLRP3 | c.1314C>G (p.Thr438=) c.1179C>G (p.Thr393=) c.1320C>G (p.Thr440=) n.1495C>G | |
1 | g.247424763C>T | CA1495008 | NLRP3 | c.1314C>T (p.Thr438=) c.1179C>T (p.Thr393=) c.1320C>T (p.Thr440=) n.1495C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.247424764G>A | CA281181 | NLRP3 | c.1315G>A (p.Ala439Thr) c.1180G>A (p.Ala394Thr) c.1321G>A (p.Ala441Thr) n.1496G>A | ClinVar dbSNP |
1 | g.247424764G>C | CA281185 | NLRP3 | c.1315G>C (p.Ala439Pro) c.1180G>C (p.Ala394Pro) c.1321G>C (p.Ala441Pro) n.1496G>C | ClinVar dbSNP |
1 | g.247424764G= | CA1142421406 | NLRP3 | c.1315G= (p.Ala439=) c.1180G= (p.Ala394=) c.1321G= (p.Ala441=) n.1496G= | |
1 | g.247424764G>T | CA345556626 | NLRP3 | c.1315G>T (p.Ala439Ser) c.1180G>T (p.Ala394Ser) c.1321G>T (p.Ala441Ser) n.1496G>T | |
1 | g.247424765C>A | CA345556627 | NLRP3 | c.1316C>A (p.Ala439Glu) c.1181C>A (p.Ala394Glu) c.1322C>A (p.Ala441Glu) n.1497C>A | |
1 | g.247424765C= | CA1141581526 | NLRP3 | c.1316C= (p.Ala439=) c.1181C= (p.Ala394=) c.1322C= (p.Ala441=) n.1497C= | |
1 | g.247424765C>G | CA345556628 | NLRP3 | c.1316C>G (p.Ala439Gly) c.1181C>G (p.Ala394Gly) c.1322C>G (p.Ala441Gly) n.1497C>G | COSMIC |
1 | g.247424765C>T | CA280958 | NLRP3 | c.1316C>T (p.Ala439Val) c.1181C>T (p.Ala394Val) c.1322C>T (p.Ala441Val) n.1497C>T | ClinVar dbSNP gnomAD v4 |
1 | g.247424766G>A | CA1495009 | NLRP3 | c.1317G>A (p.Ala439=) c.1182G>A (p.Ala394=) c.1323G>A (p.Ala441=) n.1498G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.247424766G>C | CA424582748 | NLRP3 | c.1317G>C (p.Ala439=) c.1182G>C (p.Ala394=) c.1323G>C (p.Ala441=) n.1498G>C | |
1 | g.247424766G= | CA1143518618 | NLRP3 | c.1317G= (p.Ala439=) c.1182G= (p.Ala394=) c.1323G= (p.Ala441=) n.1498G= | |
1 | g.247424766G>T | CA424582749 | NLRP3 | c.1317G>T (p.Ala439=) c.1182G>T (p.Ala394=) c.1323G>T (p.Ala441=) n.1498G>T | COSMIC |
1 | g.247424767G>A | CA345556629 | NLRP3 | c.1318G>A (p.Val440Met) c.1183G>A (p.Val395Met) c.1324G>A (p.Val442Met) n.1499G>A | |
1 | g.247424767G>C | CA345556630 | NLRP3 | c.1318G>C (p.Val440Leu) c.1183G>C (p.Val395Leu) c.1324G>C (p.Val442Leu) n.1499G>C | |
1 | g.247424767G= | CA1232098253 | NLRP3 | c.1318G= (p.Val440=) c.1183G= (p.Val395=) c.1324G= (p.Val442=) n.1499G= | |
1 | g.247424767G>T | CA345556631 | NLRP3 | c.1318G>T (p.Val440Leu) c.1183G>T (p.Val395Leu) c.1324G>T (p.Val442Leu) n.1499G>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.247424768T>A | CA345556632 | NLRP3 | c.1319T>A (p.Val440Glu) c.1184T>A (p.Val395Glu) c.1325T>A (p.Val442Glu) n.1500T>A | |
1 | g.247424768T>C | CA345556633 | NLRP3 | c.1319T>C (p.Val440Ala) c.1184T>C (p.Val395Ala) c.1325T>C (p.Val442Ala) n.1500T>C | |
1 | g.247424768T>G | CA345556634 | NLRP3 | c.1319T>G (p.Val440Gly) c.1184T>G (p.Val395Gly) c.1325T>G (p.Val442Gly) n.1500T>G | |
1 | g.247424769G>A | CA424580692 | NLRP3 | c.1320G>A (p.Val440=) c.1185G>A (p.Val395=) c.1326G>A (p.Val442=) n.1501G>A | |
1 | g.247424769G>C | CA424580695 | NLRP3 | c.1320G>C (p.Val440=) c.1185G>C (p.Val395=) c.1326G>C (p.Val442=) n.1501G>C | |
1 | g.247424769G>T | CA424580694 | NLRP3 | c.1320G>T (p.Val440=) c.1185G>T (p.Val395=) c.1326G>T (p.Val442=) n.1501G>T | gnomAD v4 |
1 | g.247424770T>A | CA345556635 | NLRP3 | c.1321T>A (p.Tyr441Asn) c.1186T>A (p.Tyr396Asn) c.1327T>A (p.Tyr443Asn) n.1502T>A | |
1 | g.247424770T>C | CA281189 | NLRP3 | c.1321T>C (p.Tyr441His) c.1186T>C (p.Tyr396His) c.1327T>C (p.Tyr443His) n.1502T>C | ClinVar dbSNP |
1 | g.247424770T>G | CA345556636 | NLRP3 | c.1321T>G (p.Tyr441Asp) c.1186T>G (p.Tyr396Asp) c.1327T>G (p.Tyr443Asp) n.1502T>G | |
1 | g.247424770T= | CA1142421407 | NLRP3 | c.1321T= (p.Tyr441=) c.1186T= (p.Tyr396=) c.1327T= (p.Tyr443=) n.1502T= | |
1 | g.247424771A>C | CA345556639 | NLRP3 | c.1322A>C (p.Tyr441Ser) c.1187A>C (p.Tyr396Ser) c.1328A>C (p.Tyr443Ser) n.1503A>C | |
1 | g.247424771A>G | CA345556637 | NLRP3 | c.1322A>G (p.Tyr441Cys) c.1187A>G (p.Tyr396Cys) c.1328A>G (p.Tyr443Cys) n.1503A>G | ClinVar |
1 | g.247424771A>T | CA345556638 | NLRP3 | c.1322A>T (p.Tyr441Phe) c.1187A>T (p.Tyr396Phe) c.1328A>T (p.Tyr443Phe) n.1503A>T | |
1 | g.247424772C>A | CA345556640 | NLRP3 | c.1323C>A (p.Tyr441Ter) c.1188C>A (p.Tyr396Ter) c.1329C>A (p.Tyr443Ter) n.1504C>A | |
1 | g.247424772C= | CA1143406461 | NLRP3 | c.1323C= (p.Tyr441=) c.1188C= (p.Tyr396=) c.1329C= (p.Tyr443=) n.1504C= | |
1 | g.247424772C>G | CA345556641 | NLRP3 | c.1323C>G (p.Tyr441Ter) c.1188C>G (p.Tyr396Ter) c.1329C>G (p.Tyr443Ter) n.1504C>G | |
1 | g.247424772C>T | CA1495010 | NLRP3 | c.1323C>T (p.Tyr441=) c.1188C>T (p.Tyr396=) c.1329C>T (p.Tyr443=) n.1504C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247424773G>A | CA1495011 | NLRP3 | c.1324G>A (p.Val442Ile) c.1189G>A (p.Val397Ile) c.1330G>A (p.Val444Ile) n.1505G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.247424773G>C | CA345556642 | NLRP3 | c.1324G>C (p.Val442Leu) c.1189G>C (p.Val397Leu) c.1330G>C (p.Val444Leu) n.1505G>C | |
1 | g.247424773G= | CA1143471336 | NLRP3 | c.1324G= (p.Val442=) c.1189G= (p.Val397=) c.1330G= (p.Val444=) n.1505G= | |
1 | g.247424773G>T | CA345556643 | NLRP3 | c.1324G>T (p.Val442Phe) c.1189G>T (p.Val397Phe) c.1330G>T (p.Val444Phe) n.1505G>T | |
1 | g.247424774T>A | CA345556644 | NLRP3 | c.1325T>A (p.Val442Asp) c.1190T>A (p.Val397Asp) c.1331T>A (p.Val444Asp) n.1506T>A | |
1 | g.247424774T>C | CA345556645 | NLRP3 | c.1325T>C (p.Val442Ala) c.1190T>C (p.Val397Ala) c.1331T>C (p.Val444Ala) n.1506T>C | |
1 | g.247424774T>G | CA345556646 | NLRP3 | c.1325T>G (p.Val442Gly) c.1190T>G (p.Val397Gly) c.1331T>G (p.Val444Gly) n.1506T>G | |
1 | g.247424775C>A | CA424580711 | NLRP3 | c.1326C>A (p.Val442=) c.1191C>A (p.Val397=) c.1332C>A (p.Val444=) n.1507C>A | |
1 | g.247424775C>G | CA424580715 | NLRP3 | c.1326C>G (p.Val442=) c.1191C>G (p.Val397=) c.1332C>G (p.Val444=) n.1507C>G | |
1 | g.247424775C>T | CA424580713 | NLRP3 | c.1326C>T (p.Val442=) c.1191C>T (p.Val397=) c.1332C>T (p.Val444=) n.1507C>T | |
1 | g.247424776T>A | CA345556647 | NLRP3 | c.1327T>A (p.Phe443Ile) c.1192T>A (p.Phe398Ile) c.1333T>A (p.Phe445Ile) n.1508T>A | |
1 | g.247424776T>C | CA345556648 | NLRP3 | c.1327T>C (p.Phe443Leu) c.1192T>C (p.Phe398Leu) c.1333T>C (p.Phe445Leu) n.1508T>C | dbSNP gnomAD v3 gnomAD v4 |
1 | g.247424776T>G | CA345556649 | NLRP3 | c.1327T>G (p.Phe443Val) c.1192T>G (p.Phe398Val) c.1333T>G (p.Phe445Val) n.1508T>G | |
1 | g.247424776T= | CA1232098262 | NLRP3 | c.1327T= (p.Phe443=) c.1192T= (p.Phe398=) c.1333T= (p.Phe445=) n.1508T= | |
1 | g.247424777T>A | CA345556652 | NLRP3 | c.1328T>A (p.Phe443Tyr) c.1193T>A (p.Phe398Tyr) c.1334T>A (p.Phe445Tyr) n.1509T>A | |
1 | g.247424777T>C | CA345556651 | NLRP3 | c.1328T>C (p.Phe443Ser) c.1193T>C (p.Phe398Ser) c.1334T>C (p.Phe445Ser) n.1509T>C | |
1 | g.247424777T>G | CA345556650 | NLRP3 | c.1328T>G (p.Phe443Cys) c.1193T>G (p.Phe398Cys) c.1334T>G (p.Phe445Cys) n.1509T>G | |
1 | g.247424778C>A | CA345556653 | NLRP3 | c.1329C>A (p.Phe443Leu) c.1194C>A (p.Phe398Leu) c.1335C>A (p.Phe445Leu) n.1510C>A | |
1 | g.247424778C= | CA1142421408 | NLRP3 | c.1329C= (p.Phe443=) c.1194C= (p.Phe398=) c.1335C= (p.Phe445=) n.1510C= | |
1 | g.247424778C>G | CA281193 | NLRP3 | c.1329C>G (p.Phe443Leu) c.1194C>G (p.Phe398Leu) c.1335C>G (p.Phe445Leu) n.1510C>G | ClinVar dbSNP |
1 | g.247424778C>T | CA424580726 | NLRP3 | c.1329C>T (p.Phe443=) c.1194C>T (p.Phe398=) c.1335C>T (p.Phe445=) n.1510C>T | |
1 | g.247424779T>A | CA345556654 | NLRP3 | c.1330T>A (p.Phe444Ile) c.1195T>A (p.Phe399Ile) c.1336T>A (p.Phe446Ile) n.1511T>A | |
1 | g.247424779T>C | CA345556655 | NLRP3 | c.1330T>C (p.Phe444Leu) c.1195T>C (p.Phe399Leu) c.1336T>C (p.Phe446Leu) n.1511T>C | |
1 | g.247424779T>G | CA345556656 | NLRP3 | c.1330T>G (p.Phe444Val) c.1195T>G (p.Phe399Val) c.1336T>G (p.Phe446Val) n.1511T>G | |
1 | g.247424780T>A | CA345556657 | NLRP3 | c.1331T>A (p.Phe444Tyr) c.1196T>A (p.Phe399Tyr) c.1337T>A (p.Phe446Tyr) n.1512T>A | |
1 | g.247424780T>C | CA345556658 | NLRP3 | c.1331T>C (p.Phe444Ser) c.1196T>C (p.Phe399Ser) c.1337T>C (p.Phe446Ser) n.1512T>C | |
1 | g.247424780T>G | CA345556659 | NLRP3 | c.1331T>G (p.Phe444Cys) c.1196T>G (p.Phe399Cys) c.1337T>G (p.Phe446Cys) n.1512T>G | |
1 | g.247424781C>A | CA345556661 | NLRP3 | c.1332C>A (p.Phe444Leu) c.1197C>A (p.Phe399Leu) c.1338C>A (p.Phe446Leu) n.1513C>A | |
1 | g.247424781C= | CA1232098271 | NLRP3 | c.1332C= (p.Phe444=) c.1197C= (p.Phe399=) c.1338C= (p.Phe446=) n.1513C= | |
1 | g.247424781C>G | CA345556660 | NLRP3 | c.1332C>G (p.Phe444Leu) c.1197C>G (p.Phe399Leu) c.1338C>G (p.Phe446Leu) n.1513C>G | |
1 | g.247424781C>T | CA424580736 | NLRP3 | c.1332C>T (p.Phe444=) c.1197C>T (p.Phe399=) c.1338C>T (p.Phe446=) n.1513C>T | dbSNP gnomAD v4 |
1 | g.247424782del | CA2697547784 | NLRP3 | c.1333del (p.Leu445PhefsTer?) c.1198del (p.Leu400PhefsTer?) c.1339del (p.Leu447PhefsTer?) n.1514del | ClinVar |
1 | g.247424782C>A | CA345556662 | NLRP3 | c.1333C>A (p.Leu445Ile) c.1198C>A (p.Leu400Ile) c.1339C>A (p.Leu447Ile) n.1514C>A | |
1 | g.247424782C= | CA1143527844 | NLRP3 | c.1333C= (p.Leu445=) c.1198C= (p.Leu400=) c.1339C= (p.Leu447=) n.1514C= | |
1 | g.247424782C>G | CA345556663 | NLRP3 | c.1333C>G (p.Leu445Val) c.1198C>G (p.Leu400Val) c.1339C>G (p.Leu447Val) n.1514C>G | |
1 | g.247424782C>T | CA1495012 | NLRP3 | c.1333C>T (p.Leu445Phe) c.1198C>T (p.Leu400Phe) c.1339C>T (p.Leu447Phe) n.1514C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.247424783T>A | CA345556664 | NLRP3 | c.1334T>A (p.Leu445His) c.1199T>A (p.Leu400His) c.1340T>A (p.Leu447His) n.1515T>A | |
1 | g.247424783T>C | CA345556665 | NLRP3 | c.1334T>C (p.Leu445Pro) c.1199T>C (p.Leu400Pro) c.1340T>C (p.Leu447Pro) n.1515T>C | dbSNP |
1 | g.247424783T>G | CA345556666 | NLRP3 | c.1334T>G (p.Leu445Arg) c.1199T>G (p.Leu400Arg) c.1340T>G (p.Leu447Arg) n.1515T>G | |
1 | g.247424783T= | CA1232098277 | NLRP3 | c.1334T= (p.Leu445=) c.1199T= (p.Leu400=) c.1340T= (p.Leu447=) n.1515T= | |
1 | g.247424784T>A | CA424580744 | NLRP3 | c.1335T>A (p.Leu445=) c.1200T>A (p.Leu400=) c.1341T>A (p.Leu447=) n.1516T>A | |
1 | g.247424784T>C | CA424580745 | NLRP3 | c.1335T>C (p.Leu445=) c.1200T>C (p.Leu400=) c.1341T>C (p.Leu447=) n.1516T>C | gnomAD v4 |
1 | g.247424784T>G | CA424580746 | NLRP3 | c.1335T>G (p.Leu445=) c.1200T>G (p.Leu400=) c.1341T>G (p.Leu447=) n.1516T>G |